ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6230A>T (p.Asp2077Val)

dbSNP: rs1555534684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315814 SCV000663271 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-03-18 criteria provided, single submitter clinical testing The p.D2056V variant (also known as c.6167A>T), located in coding exon 41 of the NF1 gene, results from an A to T substitution at nucleotide position 6167. The aspartic acid at codon 2056 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000707050 SCV000836130 uncertain significance Neurofibromatosis, type 1 2018-05-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 480225). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with valine at codon 2056 of the NF1 protein (p.Asp2056Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine.
Genome-Nilou Lab RCV000707050 SCV002560944 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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